Miocardiopatía arritmogénica con afectación predominante del ventrículo izquierdo por una mutación nueva «sin sentido» en desmoplaquina
作者： Josep Navarro-Manchón , Elena Fernández , Begoña Igual , Angeliki Asimaki , Petros Syrris
DOI: 10.1016/J.RECESP.2010.10.020
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摘要: Left dominant arrhythmogenic cardiomyopathy (LDAC) exhibits characteristic phenotypic and genetic features which were found in the five Spanish family members described this study. Triggered by a cold, young man presented with ventricular tachycardia of left origin late gadolinium enhancement. His resting ECG showed low potentials, delayed depolarization (inferior V4-V6 leads) atrioventricular conduction disturbances. endomyocardial biopsy revealed myocyte loss interstitial fibrosis. Despite initial diagnosis myocarditis, familial screening was pivotal confirming LDAC. A novel nonsense mutation desmoplakin gene (Q1866X) truncated protein it produces observed skin samples.
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